ClinVar Miner

Submissions for variant NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)

gnomAD frequency: 0.00022  dbSNP: rs371720347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487670 SCV000574928 likely pathogenic not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV000677630 SCV001200864 pathogenic Bailey-Bloch congenital myopathy 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys288*) in the STAC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAC3 are known to be pathogenic (PMID: 28411587, 28777491). This variant is present in population databases (rs371720347, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with congenital myopathy (PMID: 28411587). ClinVar contains an entry for this variant (Variation ID: 425007). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001267514 SCV001445695 pathogenic Inborn genetic diseases 2019-07-15 criteria provided, single submitter clinical testing
OMIM RCV000677630 SCV000803759 pathogenic Bailey-Bloch congenital myopathy 2023-03-10 no assertion criteria provided literature only
GeneReviews RCV000677630 SCV000994600 not provided Bailey-Bloch congenital myopathy no assertion provided literature only

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